Molecular Bases and Phenotypic Determinants of Aromatase Excess Syndrome

by Maki Fukami, Makio Shozu, Tsutomu Ogata
Published 2012-01-01

Glucose-6-Phosphate Dehydrogenase Deficiency and Adrenal Hemorrhage in a Filipino Neonate with Hyperbilirubinemia

by Akira Ohishi, Daizo Ueno, Tsutomu Ogata
Published 2013-05-01

Case Report: Novel compound heterozygous TPRKB variants cause Galloway-Mowat syndrome

by Takuya Hiraide, Taiju Hayashi, Taiju Hayashi, Yusuke Ito, Rei Urushibata, Hiroshi Uchida, Ryoichi Kitagata, Hidetoshi Ishigaki, Tsutomu Ogata, Tsutomu Ogata, Tsutomu Ogata, Hirotomo Saitsu, Tokiko Fukuda, Tokiko Fukuda
Published 2024-04-01

Pathogenic sequence variant and microdeletion affecting HMGA2 in Silver–Russell syndrome: case reports and literature review

by Kaori Yamoto, Hirotomo Saitsu, Yumiko Ohkubo, Masayo Kagami, Tsutomu Ogata
Published 2024-06-01

Case Report: Efficacy of Reduced Doses of Asfotase Alfa Replacement Therapy in an Infant With Hypophosphatasia Who Lacked Severe Clinical Symptoms

by Yasuko Fujisawa, Taichi Kitaoka, Hiroyuki Ono, Shinichi Nakashima, Keiichi Ozono, Tsutomu Ogata
Published 2020-12-01

Mamld1 knockdown reduces testosterone production and Cyp17a1 expression in mouse Leydig tumor cells.

by Michiko Nakamura, Maki Fukami, Fumihiro Sugawa, Mami Miyado, Katsuya Nonomura, Tsutomu Ogata
Published 2011-04-01

Spontaneous intraperitoneal renal rupture with urinoma formation in the fetus

by Junki Harada, Toshiharu Kihara, Tsutomu Ogata, Fumiko Kinoshita, Yusuke Yamane, Hideki Sakai
Published 2021-07-01

Sotos syndrome with marked overgrowth in three Japanese patients with heterozygous likely pathogenic NSD1 variants: case reports with review of literature

by Yohei Masunaga, Hiroyuki Ono, Yasuko Fujisawa, Kiyosu Taniguchi, Hirotomo Saitsu, Tsutomu Ogata
Published 2023-11-01

NDNF variants are rare in patients with congenital hypogonadotropic hypogonadism

by Satoshi Tamaoka, Erina Suzuki, Atsushi Hattori, Tsutomu Ogata, Maki Fukami, Yuko Katoh-Fukui
Published 2021-02-01

Retinitis pigmentosa with optic neuropathy and COQ2 mutations: A case report

by Kentaro Kurata, Katsuhiro Hosono, Masakazu Takayama, Masahisa Katsuno, Hirotomo Saitsu, Tsutomu Ogata, Yoshihiro Hotta
Published 2022-03-01

A de novo TOP2B variant associated with global developmental delay and autism spectrum disorder

by Takuya Hiraide, Seiji Watanabe, Tomoko Matsubayashi, Kumiko Yanagi, Mitsuko Nakashima, Tsutomu Ogata, Hirotomo Saitsu
Published 2020-03-01

Coffin‐Lowry syndrome in a girl with 46,XX,t(X;11)(p22;p15)dn: Identification of RPS6KA3 disruption by whole genome sequencing

by Kaori Yamoto, Hirotomo Saitsu, Yasuko Fujisawa, Fumiko Kato, Keiko Matsubara, Maki Fukami, Masayo Kagami, Tsutomu Ogata
Published 2020-06-01

Knockout of Murine Mamld1 Impairs Testicular Growth and Daily Sperm Production but Permits Normal Postnatal Androgen Production and Fertility

by Mami Miyado, Kaoru Yoshida, Kenji Miyado, Momori Katsumi, Kazuki Saito, Shigeru Nakamura, Tsutomu Ogata, Maki Fukami
Published 2017-06-01

P389: Kagami-Ogata syndrome: The indispensable role of clinical assessment and utilization of advanced molecular technologies

by Nathaniel Jensen, Scott Saunders, Tsutomu Ogata, Ryan Longman, Masayo Kagami, Maria Laura Duque Lasio, Marwan Shinawi
Published 2024-01-01

GATA4 mutations are uncommon in patients with 46,XY disorders of sex development without heart anomaly

by Maki Igarashi, Kentaro Mizuno, Masafumi Kon, Satoshi Narumi, Yoshiyuki Kojima, Yutaro Hayashi, Tsutomu Ogata, Maki Fukami
Published 2018-01-01

Congenital limb deficiency in Japan: a cross-sectional nationwide survey on its epidemiology

by Hiroshi Mano, Sayaka Fujiwara, Kazuyuki Takamura, Hiroshi Kitoh, Shinichiro Takayama, Tsutomu Ogata, Shuji Hashimoto, Nobuhiko Haga
Published 2018-07-01

Temple syndrome in a patient with variably methylated CpGs at the primary MEG3/DLK1:IG-DMR and severely hypomethylated CpGs at the secondary MEG3:TSS-DMR

by Masayo Kagami, Atsuhiro Yanagisawa, Miyuki Ota, Kentaro Matsuoka, Akie Nakamura, Keiko Matsubara, Kazuhiko Nakabayashi, Shuji Takada, Maki Fukami, Tsutomu Ogata
Published 2019-03-01

Partial androgen insensitivity syndrome caused by a deep intronic mutation creating an alternative splice acceptor site of the AR gene

by Hiroyuki Ono, Hirotomo Saitsu, Reiko Horikawa, Shinichi Nakashima, Yumiko Ohkubo, Kumiko Yanagi, Kazuhiko Nakabayashi, Maki Fukami, Yasuko Fujisawa, Tsutomu Ogata
Published 2018-02-01

Exploring the unique function of imprinting control centers in the PWS/AS-responsible region: finding from array-based methylation analysis in cases with variously sized microdelet...

by Keiko Matsubara, Masatsune Itoh, Kenji Shimizu, Shinji Saito, Keisuke Enomoto, Kazuhiko Nakabayashi, Kenichiro Hata, Kenji Kurosawa, Tsutomu Ogata, Maki Fukami, Masayo Kagami
Published 2019-02-01

Association of four imprinting disorders and ART

by Hiromitsu Hattori, Hitoshi Hiura, Akane Kitamura, Naoko Miyauchi, Norio Kobayashi, Souta Takahashi, Hiroaki Okae, Koichi Kyono, Masayo Kagami, Tsutomu Ogata, Takahiro Arima
Published 2019-02-01